A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133282



Internal ID19276670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191097606..191120761hg38UCSC Ensembl
Outerchr2:191962332..191985487hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3823156
hg1923156
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988192
SamplesKWS1
Known GenesSTAT4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133282
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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